| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134812622del | CA16043670 | COL5A1 | c.3762del (p.Gly1255AlafsTer21) n.4164del n.4160del | ClinVar dbSNP |
| 9 | g.134812622T= | CA3165921481 | COL5A1 | c.3762T= (p.Pro1254=) n.4164T= n.4160T= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.134812622del | CA16043670 | COL5A1 | c.3762del (p.Gly1255AlafsTer21) n.4164del n.4160del | ClinVar dbSNP |
| 9 | g.134812622T= | CA3165921481 | COL5A1 | c.3762T= (p.Pro1254=) n.4164T= n.4160T= | dbSNP |